Abstract
BackgroundNon-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings to the results found in children.ResultsOne thousand seven hundred twenty-two brain MRI scans of 562 unselected individuals with NF1 were collected at the NF outpatient department of the University Hospital Hamburg-Eppendorf between 2003 and 2015. The number of scans per patient ranged from one to 12; patients were followed for a median of 3.7 years. We identified 24 patients (4.3%) with non-optic gliomas. Median age at first scan with glioma was 21.2 years, much higher than in previous publications. Only seven of the 24 non-optic glioma patients were symptomatic. Five of 24 patients had multiple non-optic gliomas. Four individuals developed a new tumour, and 4 cases showed progression. The risk of new tumour development was 0.19% (95% confidence interval 0.06% to 0.52%) per patient year of follow-up for patients over 10 years. The rate of progressing non-optic gliomas per patient year of follow-up in the first 5 years after tumour diagnosis was 4.7% (95% confidence interval 1.5% to 12%).ConclusionsNon-optic gliomas are twice as common in an unselected cohort of NF1 patients as previously reported. This is likely due to increased frequency of diagnosis of asymptomatic tumours when routine MRIs are performed and a higher prevalence in older individuals.
Highlights
Non-optic gliomas occur in 5% of children with Neurofibromatosis 1 (NF1), but little is known about these tumours in adults
Non-optic gliomas in NF1 patients are usually located in the brainstem or cerebellum and are almost exclusively reported in children, non-optic gliomas are
51 patients were lost to follow-up and 24 died of reasons unrelated to non-optic gliomas, equaling a dropout rate of 13.3%
Summary
Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with an estimated incidence of 1 in 3000 live births [1]. It is caused by mutations in the NF1 gene, a suppressor of the RAS kinase pathway. Non-optic gliomas in NF1 patients are usually located in the brainstem or cerebellum and are almost exclusively reported in children, non-optic gliomas are MRI is commonly used to evaluate intracranial tumours in clinical as well as research settings [13]. MRI provides information on the presence, location, and size of the tumour and is a crucial tool in routine clinical care of gliomas in individuals with or without NF1
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